Primary Identifier | MGI:2143558 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 103172 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Involved in several processes, including mitochondria-nucleus signaling pathway; positive regulation of mitochondrial transcription; and stabilization of membrane potential. Located in mitochondrion. Is expressed in several structures, including brain ventricle and choroid plexus; early embryo; hypothalamus mantle layer; renal calyx; and ventral grey horn. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis-2; isolated mitochondrial myopathy; and spinal muscular atrophy, Jokela type. Orthologous to human CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10). PHENOTYPE: Homozygous deletion results in mild mitochondrial respiration anomalies in skeletal muscle. [provided by MGI curators] |